Variant information


Systematic Name c.1135_1142del8
Protein name p.Pro379fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-mental retardation
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1135_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6669 :::
2 c.1135_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6668 :::